n-acetyl-2-aminoadipate to n-acetylphenylalanine

Numerator Metabolite

Structure of n-acetyl-2-aminoadipate
Metabolite Accession: GCST90200268
Name: n-acetyl-2-aminoadipate
Hmdb Id: HMDB0062715
Super Pathway: NA
Sub Pathway: NA
Inchikey: FTTGAAZKBNZDCZ

Denominator Metabolite

Structure of n-acetylphenylalanine
Metabolite Accession: GCST90200677
Name: n-acetylphenylalanine
Hmdb Id: HMDB0000512
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBQJSKKFNMDLON

Associated Genomic Regions

Region: rs12209125

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.225
Position:
25769789
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
11.692
Reference Allele:
A
-log10(P):
-71.046
MAF:
0.410
Beta (Num):
0.076
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.149
SE (Den):
0.015
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A4 SLC17A1 HIST1H2BA HIST1H2AA SLC17A3

LLM Analysis

Numerator Metabolite Explanation:

Lysine degradation pathway.4[1], 5[2]

Denominator Metabolite Explanation:

Phenylalanine metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio may reflect altered transport activity by SLC17A4, potentially due to competitive binding, affecting the relative plasma concentrations of these acetylated amino acids.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The `SLC17A4` variant likely alters urate transport, directly explaining the association with uric acid levels.9[1], 10[2], 11[3] This altered urate homeostasis may indirectly impact red blood cell indices (MCH, MCHC, Hb, MCV), which are also observed phenotypes.12[4]

Phenotype Driver:

Gene-centric:SLC17A4

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data